A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723551



Internal ID9957851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42530379..42530768hg38UCSC Ensembl
Outerchr21:43950489..43950878hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38390
hg19390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6972204
SamplesSSM028
Known GenesSLC37A1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2723551
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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